Publications by authors named "Mahmoud Kharouf"
Article Synopsis
- - A study involving 167 infertile patients identified bi-allelic mutations in the CCDC146 gene, linked to a condition known as multiple morphological abnormalities of the flagellum (MMAF) affecting sperm structure.
- - Researchers developed a knock-out mouse model, which showed that male mice lacking CCDC146 were infertile and had sperm characteristics similar to those of the mutated patients.
- - CCDC146 is important for the proper formation of sperm structures like the axoneme and other microtubule-related organelles, highlighting its role as a microtubule inner protein (MIP) that can lead to infertility when mutated.
Article Synopsis
- Globozoospermia is a type of male infertility characterized by round-headed sperm that lack an acrosome, with genetic anomalies in the DPY19L2 gene accounting for 50-70% of cases, often due to complete gene deletions.* -
- A study involving 69 patients found that 36% had homozygous deletions of the DPY19L2 gene, and even higher proportions of genetic defects correlated with increased rates of globozoospermia, indicating a strong relationship between genotype and phenotype.* -
- The study suggests a new diagnostic approach focusing on patients with over 50% globozoospermia by initially testing for DPY19L2 deletions using
Article Synopsis
- - Men with non-obstructive azoospermia (NOA) can potentially have viable sperm in their testes, and advanced sperm retrieval techniques like microdissection testicular sperm extraction (mTESE) are essential for improving fertility, with a sperm retrieval rate (SRR) of 60%.
- - A study conducted on 1,050 NOA patients using a modified mTESE technique with 6-fold magnifying loupes resulted in finding sperm in 61% of cases on the first testis and increased the overall SRR from 43% to 51.8%.
- - This modified mTESE technique is effective and reliable for institutions lacking an operating microscope, making it particularly beneficial for patients with
Article Synopsis
- Multiple morphological anomalies of the sperm flagella (MMAF syndrome) is a serious cause of male infertility linked to mutations in several genes that affect sperm flagellum structure.
- Research identified significant homozygous mutations in the QRICH2 gene, crucial for sperm flagellum development, in patients from two Chinese families and further analyzed a wider cohort to link QRICH2 to MMAF.
- Out of 167 affected individuals, 1% had homozygous loss-of-function variants confirming QRICH2's role, while 9.6% had heterozygous variants, suggesting these variants are common and not specifically linked to MMAF syndrome.
Article Synopsis
- Male infertility is a significant health issue, with multiple morphological abnormalities of the flagella (MMAF) being a severe form that causes asthenozoospermia due to irregular sperm flagella.
- Six genes linked to MMAF have been identified; however, many cases remain unexplained, indicating more undiscovered gene defects.
- Whole-exome sequencing revealed that mutations in the ARMC2 gene cause the MMAF phenotype in both humans and mice, highlighting its crucial role in sperm flagellum structure and assembly.
Article Synopsis
- * Previous studies identified that mutations in genes like DNAH1 and CFAP43/44 account for about one-third of MMAF cases, suggesting there are still more genes to discover.
- * The study included genetic analyses and tissue examinations to characterize sperm abnormalities associated with these mutations, highlighting the importance of the FSIP2 gene in sperm development.
Article Synopsis
- Multiple morphological abnormalities of the sperm flagellum (MMAF) is a serious male infertility issue characterized by various sperm flagella defects, linked to genetic mutations affecting axonemal proteins.
- Researchers analyzed whole-exome sequencing data from 78 affected individuals and discovered a homozygous deletion in the WDR66 gene in 7 cases, indicating a new genetic contributor to MMAF.
- Further experiments, including studies on a related protein in Trypanosoma, demonstrated that this gene deletion impairs flagellar movement, thus confirming WDR66's role in male infertility related to MMAF.
Article Synopsis
- The genetic basis of oocyte meiotic deficiency (OMD), a primary infertility issue linked to immature egg production, is under-researched.
- A study using whole exome sequencing revealed that 26% of individuals with OMD carried the same harmful mutation in the PATL2 gene, which is thought to be crucial for RNA regulation.
- Experiments with knockout mice indicated that the absence of PATL2 disrupts oocyte development and maturation by affecting key gene expressions, establishing PATL2 as an important factor in mammalian fertility.
Article Synopsis
- Spermatogenesis issues affect millions of men globally, but many remain undiagnosed.
- The research identified 22 men with primary infertility linked to mutations in genes DNAH1, CFAP43, and CFAP44, confirmed through genetic sequencing.
- CRISPR/Cas9 experiments on mice demonstrated that CFAP43 and CFAP44 are crucial for producing functional sperm flagella, underscoring their importance across different species.
Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.
Clémentine Wambergue Raoudha Zouari Selima Fourati Ben Mustapha Guillaume Martinez Françoise Devillard Mahmoud Kharouf
Hum Reprod
June 2016
Article Synopsis
- The study investigates whether mutations in the DNAH1 gene affect outcomes of intracytoplasmic sperm injection (ICSI) in patients with multiple morphological abnormalities of the sperm flagella (MMAF).
- Findings indicate that despite significant sperm abnormalities, MMAF patients with DNAH1 mutations exhibit low aneuploidy rates and good nuclear quality, resulting in high embryonic development success and pregnancy rates after ICSI.
- This retrospective cohort study analyzed data from 6 MMAF patients with DNAH1 mutations compared to two control groups, demonstrating that genetic factors can influence ICSI efficacy in men with sperm morphology defects.
Article Synopsis
- Many couples in Western countries rely on medical help for pregnancy, with over 2% of births resulting from assisted reproductive technologies.
- A study focused on a specific infertility condition, total globozoospermia, found that 75% of the patients had a deletion in a gene called DPY19L2, which is important for sperm development.
- This discovery allows for a molecular diagnosis in men with globozoospermia, confirming the condition and indicating a lower chance of success with in vitro fertilization.
Infertility concerns a minimum of 70 million couples worldwide. An important proportion of cases is believed to have a genetic component, yet few causal genes have been identified so far. In a previous study, we demonstrated that a homozygous mutation (c.
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- Advances in managing infertile couples with azoospermia have been achieved through ICSI (Intracytoplasmic Sperm Injection).
- Predicting sperm presence in non-obstructive azoospermia is challenging, with testicular biopsy being the most reliable method.
- The authors suggest performing non-synchronous testicular biopsies and freezing sperm to minimize the risks of unnecessary ovarian hyperstimulation.